Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

Nature Genetics

Volumn 36, Issue 4, 2004, Pages 361-369

  Inoue, Ken ^a,i   Khajavi, Mehrdad ^a   Ohyama, Tomoko ^a   Hirabayashi, Shin Ichi ^b   Wilson, John ^c   Reggin, James D ^d   Mancias, Pedro ^e   Butler, Ian J ^e   Wilkinson, Miles F ^f   Wegner, Michael ^g   Lupski, James R ^a,h  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b NAGANO CHILDREN'S HOSPITAL   (Japan)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d Meritcare Health System   (United States)

^e UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^f UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^g UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^h TEXAS CHILDREN S HOSPITAL   (United States)

ⁱ NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PROTEIN; TRANSCRIPTION FACTOR SOX10; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; NEUROPATHY; NONSENSE MUTATION; PRIORITY JOURNAL; SOX10 GENE; SYNDROME DELINEATION;

ALLELES; DNA-BINDING PROTEINS; DOWN-REGULATION; HIGH MOBILITY GROUP PROTEINS; HUMANS; MUTATION; PHENOTYPE; RNA, MESSENGER; TRANSCRIPTION FACTORS;

EID: 12144285746     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1322     Document Type: Article

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